NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001264061.4
Allele description [Variation Report for NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)]
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024